23 and YOU

23 and YOU

The holiday season is ending.  Like every year, we saw the two constants of the holiday season: 1) family and 2) marketers leveraging family time to sell their product. Perhaps nothing ties both these 2 things more than home consumer genetic tests.  DNA testing is powerful tool used every day to benefit my patients every day.  From confirming a flu diagnosis to stratifying a cancer type into its responsiveness to different therapies, our ability to take isolate DNA and cut, replicate, study it only adds to the arsenal at the disposal of doctors today.

So why not give that power to the consumer to learn more about her genome? And has France banned these home-based tests?



To answer some of these questions, I signed up for 23andMe to learn about what exactly the average consumer was being offered.  A few days later, I received a package in the mail.  I submitted my saliva and weeks later received an email.  My results were ready!  Before I could review my results, I had to complete some tutorials.  Thinking this would be a long process, I set aside a 1 hour for each tutorial.  To my surprise, they took only a handful of minutes each.

Before I could view my full results, I had to go through a BRCA (BReast CAncer gene), carrier status, and genetic health risk tutorials.  After clicking through the BRCA tutorial (5 slides), I came away with 2 important facts:

  1. I was only tested for 3 of the more than 1,800 BRCA variants
  2. Other risk factors play an important role in breast cancer

What about a sex as a risk factor?  Why was I as a chromosomal male (XY) getting tested for a breast cancer gene?  Many people falsely believe breast cancer is an exclusively a female disease and therefore a BRCA mutation would exclusively affect women. A better explanation of all the cancers related to the BRCA gene would have been helpful. In short, the slides were incomplete as the testing I underwent.

The next tutorial on carrier status was even shorter, with 3 slides.  I received an explanation on simple Mendelian inheritance, genetic basics that are common from peas to people.  The second slide was enough for me (see below), but I wonder if that would be the case for the average person.  I have had numerous conversations with my patients on risk factors every day and I don’t think the average patient/consumer would find 3 slides enough.

After completing the short tutorial, I could see my results. Your results are divided into 5 major sections:

  1. My Health Action Plan
  2. Health Predisposition
  3. Carrier Status
  4. Wellness
  5. Traits

Under My Health Action Plan, I was given 20 itemized recommendations.  As a physician, I could have arrived at these actions without a genetic analysis.  The recommendations ranged from eating nutrient-dense foods to exercising 30 mins 5 days a week.

Next, I went through my Health Disposition, which went through 13 conditions:

  1. Age-Related Macular Degeneration
  2. Celiac Disease
  3. Alpha-1 Antitrypsin Deficiency
  4. BRCA1/BRCA2 (Select Variants)
  5. Familial Hypercholesterolemia
  6. G6PD Deficiency
  7. Hereditary Amyloidosis (TTR-Related)
  8. Hereditary Hemochromatosis (HFE-Related)
  9. Hereditary Thrombophilia
  10. Late-Onset Alzheimer’s Disease
  11. MUTYH-Associated Polyposis
  12. Parkinson’s Disease
  13. Type 2 Diabetes

For the conditions 3 through 12, I received a “variants not detected” message.  For Type 2 Diabetes, I received a “typical likelihood” message.  I did however, received some interesting information regarding the first 2 conditions, age-related macular degeneration (ARMD) and celiac disease.

Apparently, I’m at “slightly higher risk” of ARMD.  Here, I found 23andMe, or at least the links they’ve gathered, helpful.  At the bottom of page are links to the National Eye Institute, NCBI, and Cleveland Clinic websites.  Here I could learn about disease, how I can decrease my risk, and symptoms/when I should start getting screened.  The later 2 are actionable information.  Risk can be diminished through a diet rich in leafy green vegetables and fish, blood pressure and cholesterol control, avoidance of direct sunlight over a period of years, exercising regularly, and continuing to be tobacco free.  While I was directed to a lot of great information, I wonder what added value I got from the genetic test.  The recommendations should be broadly applied to the general population, whether you’re at increased risk of age-related macular degeneration.

As far as my increased risk of celiac disease, I have a variant in my HLA-BQB1 gene.  Human leukocyte antigen (HLA) complex set of proteins used by our immune cells.  Diagnostic criteria for celiac disease include testing positive for HLA-DQA1 and HLA-DQB1, hence 23andMe flagged me.  30% of the general population has this variant, but only 3% these folks develop celiac disease.  So, before I go and get a small bowel biopsy, I should consider if I have symptoms and laboratory evidence characteristic of celiac disease.  I could, as a physician process, this information and come up with a reasonable approach, but I’ve seen patients avoid nutrient dense and healthy whole grains out of an unreasonable fear of celiac disease.

Next, I was tested for my carrier status.  I was tested for autosomal recessive polycystic kidney disease, beta thalassemia, cystic fibrosis, and 41 other conditions.  Fortunately, I am not a carrier for any of these genes tested by 23andMe.  I thought this is rather helpful function of 23andMe if done thoroughly.  I did not have the time see how thorough the carrier status testing in this regard is.  Brilliantly, Tay-Sachs disease been virtually eliminated by careful screening from the American population through education and screening for potential parents.  We could very well eliminate cystic fibrosis and sickle cell disease by patterning the same strategy.  I should caution one’s carrier status can affect family planning, so this should not be done without consulting an Obstetrician, Genetic Clinician, and Genetic Counselor.

The next set of reports was under the Wellness section.  Here I found 8 reports, which were intended to explain “how your DNA may affect your body’s response to diet, exercise, and sleep.” The reports included:

  1. Alcohol Flush Reaction
  2. Caffeine Consumption
  3. Deep Sleep
  4. Genetic Weight
  5. Lactose Intolerance
  6. Muscle Composition
  7. Saturated Fat and Weight
  8. Sleep Movement

As side from the lactose intolerance testing, the other seven tests were rather unhelpful.  The advice was again was generic and should be applied to almost anyone. I would detail each test more deeply, but they add little save a topic of conversation at a cocktail party.

23andMe has told another publication the company takes “a number of steps to make sure customers are aware of what they can learn before they open their disease risk reports.” [1] After going through the 23andMe experience, I would humbly disagree because it certainly wasn’t enough for me.




Geisinger Health

While 23andMe offers direct-to-consumer testing, Geisinger Health has started its MyCode Community Health Imitative, an effort to sequence the functional portion of its patients’ DNA.  This is done through the filter of a trained healthcare provider.  The hope is to learn helpful information about as many Geisinger patients as possible.  As of writing this article more than 190,000 patients have signed up, according to the Geisinger website.  They are predicting the is project will be help 10 to 15% of these patients.

One of the promising diseases Geisinger Health is looking for is Familial Hypercholesterolemia (FH).  In fairness, 23andMe did test me for 24 out of the 35 known variants. Catching this condition at an early age and treating it can reduce the risk of a heart attack by 80%.  Interestingly, only about a quarter of the patients with a pathological FH variant would be meet criteria for genetic testing through review of their electronic medical record, based on current guidelines.  This means potentially three-fourths of these patients are being missed.  Think of the net value added by targeting a condition such as FH, without the noise from other tests.  From my understanding, Geisinger plans to test conditions like FH, which will lead to actionable therapies for its patients.


Centers for Disease Control

Direct-to-consumer genetic tests have been around for some time, giving American government agencies time to understand, or at least postulate, their implications.

The CDC, in 2004, developed the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Steering Committee and Working Group, the latter recommends and writes evidence-based reviews on genetic tests.  Though the EGAPP recommendations have not been updated in sometime, they are much more targeted than the arsenal of 23andMe tests.  Worth reviewing, the EGAPP recommendations do not favor routine screening of patients without a strong family history or personal symptoms/risks.[7]

The CDC has authored a general statement for genetic testing: “Despite the many scientific advances in genetics, researchers have only identified a small fraction of the genetic component of most diseases. Therefore, genetic tests for many diseases are developed based on limited scientific information and may not yet provide valid or useful results to individuals who are tested. However, many genetic tests are being marketed prematurely to the public through the Internet, TV, and other media. This may lead to the misuse of these tests and the potential for physical or psychological harms to the public. At the same time, valid and useful tests, such as those for hereditary breast and ovarian cancer or for Lynch syndrome, a form of hereditary colorectal cancer, are not widely used, in part because of limited research on how to get useful tests implemented into practice across U.S. communities. Individuals can learn more about specific genetic tests by visiting the Web sites listed below or by talking with their doctor.” [8]

The CDC has also developed the Genomics Application Toolkit through The Office of Public Health Genomics.  The toolkit was developed “so that state public health departments, health care providers and payers, and anyone interested can quickly learn about Tier 1 applications, partnership building, and other action steps that can lead to saving lives.” [9] The most important information in the toolkit comes from Tier 1 recommendations.  Tier 1 refers to a definitely recommend, Tier 2 refer to maybe recommend, and Tier 3 refers recommend against. [10]

An expert panel from the CDC offered a Tier 3 consensus statement in 2017 with respect to direct-to-consumer genomic testing:  “With the increased emphasis on patient-driven health care and readily available access to patients through the internet and media, many genetic testing companies have begun to market directly to consumers. Direct-to-consumer genetic testing raises unique concerns and considerations, including limited knowledge among patients and health care providers of available genetic tests, difficulty in interpretation of genetic test results, lack of oversight of companies that offer genetic testing, and issues of privacy and confidentiality. When undergoing any direct-to-consumer genetic testing, the consumer should be apprised of risk from screening or susceptibility test results that can neither prove nor eliminate disease potential. Because ordering an appropriate genetic test and interpretation of genetic test results are complex, an obstetrician-gynecologist or other health care provider with knowledge of genetics should be involved in ordering and interpreting the results of any genetic test with medical implications. When an individual presents test results to a health care provider from a direct-to-consumer genomic test that putatively assesses the risk of specific diseases, the patient should be referred to an obstetrician-gynecologist or other health care provider who is skilled in risk assessment for the diseases of interest and interpretation of genetic testing results in the context of the individual’s relevant medical and family history. Because of these considerations and since the interpretation of the results requires specific training and medical knowledge, direct-to-consumer genetic testing should be discouraged because of the potential harm of a misinterpreted or inaccurate result.” [11]

The CDC’s recommendations are generally based on the ACCE Model for “collecting, analyzing and disseminating information on genetic tests.”  This boils down to 44 questions that assess the genetic tests in question.  The acronym ACCE comes from the 4 categories most of the questions fall into: Analytic Validity, Clinical Validity, Clinical Utility, ELSI (Ethical, Legal, and Social Implications). One can gains insight into the thoroughness the experts undertake when giving these recommendations. [13]

Of importance, another major arm of the US government opines on preventative test is the United States Preventative Services Task Force (USPSTF).  Again, the recommendations are do not recommend screening genetic tests. USPSTF Recommendations: https://www.uspreventiveservicestaskforce.org/Page/Name/uspstf-a-and-b-recommendations/ [14]

Taken as an aggregate, US government agencies are recommending against direct-to-consumer genetic testing.



The CDC is agreement with the French government, but the French have legislation on the books to deter direct-to-consumer testing. The loi de bioetiques or law of bioethics banned DNA testing, unless under doctor or court order, since 1994.  It was undergone revisions in 2004 and 2011.  As it stands, an individual can get fined 3750 euros for ordering a direct-to-consumer test.  To my knowledge, no one has been fined.

A big concern is misuse of personal genetic information.  As the use genetics advances, the abuses are adding up.  For example, 23andMe partnered with GlaxoSmithKline in 2018, sharing access to the its genetic database with the pharmaceutical company.  Apparently, you must choose to enroll with 23 and me Research (which I did not do) for the company to share your data.  [15] The potential for abuse is not limited to corporations.  The Canadian Border Services Agency has collected DNA samples from migrants and used ancestry websites to establish nationality in deportation efforts. [16]

Even if you’re a citizen, the you DNA can be used against you by law enforcement.  Per the 23andMe website:

“23andMe chooses to use all practical legal and administrative resources to resist requests from law enforcement, and we do not share customer data with any public databases, or with entities that may increase the risk of law enforcement access. In certain circumstances, however, 23andMe may be required by law to comply with a valid court order, subpoena, or search warrant for genetic or personal information.” [17]

23andMe is a fun take on Socrates’ “know thyself” creed, but one should ask does it help to know every hair on your body?  What if a company charged $100 for this information?  Well… 23andMe told me how likely I am to have certain hair features like photobleaching, texture, and thickness.  They also told me how likely I am to detect asparagus odor or how likely I am to be averse to the taste of cilantro.  It also told me that I am BRCA (BReast CAncer gene) negative, at least for the variants they tested.  So, what do I do with all this information?  Fortunately, doctors are trained to handle this information overload.  They are trained in the underlying principles that inform CDC’s ACCE Model and how they apply to you.  If you have questions about your genetic profile, I would first visit with your doctor, she can refer you to Clinical Geneticist, a board-certified physician, if needed.  I would therefore recommend against direct-to-consumer genetic test, especially given the privacy concerns and potential for abuse.



  1. Boodman, E. (2019, Nov) “In France, it’s illegal for consumers to order a DNA spit kit. Activists are fighting over lifting the ban” https://www.statnews.com/2019/11/14/france-consumer-genetic-testing-ban/
  2. Geisinger press release (2018, Jul) “Genetic testing should be offered for patients with family history of early heart disease and high cholesterol” https://www.geisinger.org/about-geisinger/news-and-media/news-releases/2018/07/31/14/17/genetic-testing-should-be-offered-to-patients-with-family-history-of-certain-cond
  3. Geisinger press release (2016, Dec) “Geisinger & Regeneron find genetic disorder substantially underdiagnosed” https://www.geisinger.edu/research/research-connections-2/2017/03/23/21/19/study-finds-life-threatening-genetic-disorder-is-substantially-underdiagnosed
  4. Geisinger, What is MyCode, https://www.geisinger.org/precision-health/mycode
  5. Geisinger press release (2018, May) “Dr. David T. Feinberg reveals health system’s pioneering precision health efforts will be recommended to every patient” https://www.geisinger.org/about-geisinger/news-and-media/news-releases/2018/05/07/12/18/dna-sequencing-to-become-part-of-geisingers-routine-clinical-care
  6. Willard, H. Et al (2018, Mar) “How is Geisinger Is Using Gene Screening to Prevent Disease” https://hbr.org/2018/03/how-geisinger-is-using-gene-screening-to-prevent-disease
  7. CDC Summaries of EGAPP Recommendations Statements, https://www.cdc.gov/genomics/gtesting/egapp/recommend/index.htm
  8. Evaluating Genomic Tests, https://www.cdc.gov/genomics/gtesting/index.htm
  9. How to Use This Toolkit, https://www.cdc.gov/genomics/implementation/toolkit/howto.htm
  10. Public Health Genomics and Precision Health Knowledge Base (v6.0), https://phgkb.cdc.gov/PHGKB/topicStartPage.action
  11. Committee Opinion No. 724: Consumer Testing for Disease Risk, Obstet Gynecol. 2017 Nov;130(5):e270-e273
  12. Evaluating Genomic Tests and Family History, Office of Public Health Genomic, https://www.cdc.gov/genomics/gtesting/file/print/EGAPP_factsheet.pdf
  13. ACCE Model List of 44 Targeted Questions, https://www.cdc.gov/genomics/gtesting/acce/acce_proj.htm
  14. USPSTF A and B Recommendations, https://www.uspreventiveservicestaskforce.org/Page/Name/uspstf-a-and-b-recommendations/
  15. Lawton, G (2019, April) “The DNA testing industry just wants your personal data – it does not care about your wellbeing” https://www.independent.co.uk/voices/dna-testing-23andme-personal-data-a8859656.html
  16. Khandaker, T (2018 Jul) “Canada is using ancestry DNA websites to help deport people” https://www.vice.com/en_ca/article/wjkxmy/canada-is-using-ancestry-dna-websites-to-help-it-deport-people
  17. 23andMe Guide for Law Enforcement, https://www.23andme.com/law-enforcement-guide/
  18. The Local (2018, Dec) “French ban on home DNA testing can’t stop the Christmas craze” https://www.thelocal.fr/20181220/french-ban-on-dna-testing-cant-stop-the-craze
  19. Devlin, H (2019, Jul) “Senior doctors call for crackdown on home genetic testing kits” https://www.theguardian.com/science/2019/jul/21/senior-doctors-call-for-crackdown-on-home-genetic-testing-kits
  20. The Pasteur Institute Research Journal(2019, Sep) “French Bioethics Law: an original participatory approach for the National Bioethics Consultation” https://www.pasteur.fr/en/home/research-journal/reports/french-bioethics-law-original-participatory-approach-national-bioethics-consultation

I grew up in Salt Lake City and a suburb of Houston. I completed my MD and MBA in the great state of Texas. I gravitated to Austin and have found a home base for my journey. I spend my time working as a Hospitalist (inpatient internal medicine doctor), consuming information, writing, working out, investing, traveling, and hanging with my dog.